Professor Stephen O'Rahilly FRS FMedSci

University Position
Head of Department


My research has been concerned with the elucidation of the basic causes of obesity and Type 2 diabetes at a molecular level and the translation of those discoveries into improved diagnosis and therapy for patients. My work has uncovered several previously unrecognised genetic causes of these diseases including some that are amenable to specific treatment.

Key Publications

Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty.

Journal: J Clin Endocrinol Metab
E-pub date: 17 Nov 2023
Authors: K Duckett, A Williamson, JWR Kincaid, K Rainbow, LJ Corbin, HC Martin, RY Eberhardt, QQ Huang, ME Hurles, W He, R Brauner, A Delaney, L Dunkel, RP Grinspon, JE Hall, JN Hirschhorn, SR Howard, AC Latronico, AAL Jorge, K McElreavey, V Mericq, PM Merino, MR Palmert, L Plummer, RA Rey, RC Rezende, SB Seminara, K Salnikov, I Banerjee, BYH Lam, JRB Perry, NJ Timpson, P Clayton, Y-M Chan, KK Ong, S O'Rahilly

MC3R links nutritional state to childhood growth and the timing of puberty.

Journal: Nature
E-pub date: 1 Nov 2021
Authors: BYH Lam, A Williamson, S Finer, FR Day, JA Tadross, A Gonçalves Soares, K Wade, P Sweeney, MN Bedenbaugh, DT Porter, A Melvin, KLJ Ellacott, RN Lippert, S Buller, J Rosmaninho-Salgado, GKC Dowsett, KE Ridley, Z Xu, I Cimino, D Rimmington, K Rainbow, K Duckett, S Holmqvist, A Khan, X Dai, EG Bochukova, Genes & Health Research Team, RC Trembath, HC Martin, AP Coll, DH Rowitch, NJ Wareham, DA van Heel, N Timpson, RB Simerly, KK Ong, RD Cone, C Langenberg, JRB Perry, GS Yeo, S O'Rahilly

Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.

Journal: Nat Med
E-pub date: 1 Jun 2021
Authors: KH Wade, BYH Lam, A Melvin, W Pan, LJ Corbin, DA Hughes, K Rainbow, J-H Chen, K Duckett, X Liu, J Mokrosiński, A Mörseburg, S Neaves, A Williamson, C Zhang, IS Farooqi, GSH Yeo, NJ Timpson, S O'Rahilly

Quantitative mass spectrometry for human melanocortin peptides in vitro and in vivo suggests prominent roles for β-MSH and desacetyl α-MSH in energy homeostasis.

Journal: Mol Metab
E-pub date: 1 Nov 2018
Authors: P Kirwan, RG Kay, B Brouwers, V Herranz-Pérez, M Jura, P Larraufie, J Jerber, J Pembroke, T Bartels, A White, FM Gribble, F Reimann, IS Farooqi, S O'Rahilly, FT Merkle


Hypothalamic loss of Snord116 recapitulates the hyperphagia of Prader-Willi syndrome.

Journal: J Clin Invest
E-pub date: 1 Mar 2018
Authors: J Polex-Wolf, BY Lam, R Larder, J Tadross, D Rimmington, F Bosch, VJ Cenzano, E Ayuso, MK Ma, K Rainbow, AP Coll, S O'Rahilly, GS Yeo

Trim28 Haploinsufficiency Triggers Bi-stable Epigenetic Obesity.

Journal: Cell
E-pub date: 28 Jan 2016
Authors: K Dalgaard, K Landgraf, S Heyne, A Lempradl, J Longinotto, K Gossens, M Ruf, M Orthofer, R Strogantsev, M Selvaraj, TT-H Lu, E Casas, R Teperino, MA Surani, I Zvetkova, D Rimmington, YCL Tung, B Lam, R Larder, GSH Yeo, S O'Rahilly, T Vavouri, E Whitelaw, JM Penninger, T Jenuwein, C-L Cheung, AC Ferguson-Smith, AP Coll, A Körner, JA Pospisilik

Identification of the global transcriptomic response of the hypothalamic arcuate nucleus to fasting and leptin.

Journal: J Neuroendocrinol
E-pub date: 31 Aug 2010
Authors: Z Jovanovic, YCL Tung, BYH Lam, S O'Rahilly, GSH Yeo